Craniofacial Dysostosis (Crouzon Disease)

An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. (Dorland, 27th ed)

Also Known As:

Networked: 60 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Acrocephalosyndactylia (Apert Syndrome)
2.	Infection
3.	Hypertelorism
4.	Congenital Abnormalities (Deformity)
5.	Craniosynostoses (Craniosynostosis)

Experts

1.	Dunaway, David: 4 articles (03/2009 - 01/2008)
2.	Witherow, Helen: 3 articles (03/2009 - 01/2008)
3.	Evans, Robert: 3 articles (03/2009 - 01/2008)
4.	Hayward, Richard: 3 articles (03/2009 - 01/2008)
5.	Iannetti, Giorgio: 2 articles (05/2012 - 05/2006)
6.	Pereira, Valerie: 2 articles (07/2008 - 04/2008)
7.	Jones, Barry M: 2 articles (04/2008 - 01/2008)
8.	Wei, Min: 2 articles (08/2007 - 07/2007)
9.	Stager, David: 1 article (09/2013)
10.	Felius, Joost: 1 article (09/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Craniofacial Dysostosis:

1.	Frontonasal dysplasiaIBA 04/01/1985 - "The method of mean tensor analysis was used to study the cranial base in six craniofacial anomalies: Crouzon's disease, Apert's syndrome, Pfeiffer's syndrome, craniofacial microsomia (CFM), Treacher Collins (TC) syndrome, and frontonasal dysplasia (FND). " 01/01/1993 - "Comparison of age-normalized preoperative and postoperative intercanthal distances revealed a significant difference for orbital hypertelorism patients as a group (p < 0.0001), patients with clefts (p < 0.0001), patients with nasoencephalocele (p < 0.01), and patients with frontonasal dysplasia (p < 0.05), but not for those patients with craniofacial dysostosis (p < 0.20). " 05/01/1996 - "This study evaluated the presence of extradural dead space following a monobloc or facial bipartition osteotomy and examined its natural history and relationship to postoperative infection and the presence of a ventriculoperitoneal shunt at the time of osteotomy in a consecutive series of patients with craniofacial dysostosis, frontonasal dysplasia, midline cranio-orbital clefts, and orbital hypertelorism. "
2.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 05/01/1995 - "This work supports genetic studies and yet shows that patients with Crouzon's disease have low FGF receptor 2 activity in cranial sutures. " 05/01/1995 - "These findings suggest that low FGF receptor 2 activity in cranial sutures correlates with Crouzon's disease. " 05/01/1995 - "In children with Crouzon's disease, we found significantly lower levels of FGF receptor 2 staining in stenosed sutures compared with nonstenosed sutures. " 05/01/1995 - "Reports have demonstrated that Crouzon's disease is associated with a gene on chromosome 10 coding for the fibroblastic growth factor (FGF) receptor 2. The purpose of this investigation was to evaluate the FGF receptor 2 levels in cranial sutures of children with Crouzon's disease and nonsyndromic, isolated craniosynostosis. " 05/01/1995 - "In addition, sutures from children with Crouzon's disease demonstrated lower levels of FGF receptor 2 activity in both stenosed and nonstenosed sutures compared with children with a nonsyndromic, isolated coronal stenosis. "
3.	tranilast (N 5')IBA 05/01/2012 - "In this study, 8 patients (n = 3 females, n = 5 males) affected by craniofacial dysostosis (Crouzon, n = 5; Apert, n = 3; Pfeiffer syndrome, n = 1; and other, n = 1) were selected on the basis of age and radiologic documentation. " 03/01/2008 - "Charts were retrieved from 119 consecutive patients treated for craniosynostosis: 62 percent were boys, and 11 percent were treated for craniofacial dysostosis (Apert syndrome, n = 2; Crouzon syndrome, n = 4; Saethre-Chotzen syndrome, n = 5; and other, n = 2). "
4.	PlasticsIBA 04/01/1987 - "The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis: Crouzon's and Apert's diseases. " 11/01/1971 - "The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. "
5.	Gorlin Chaudhry Moss syndromeIBA 07/01/2013 - "Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. " 11/01/1992 - "Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome."
6.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 01/01/2001 - "A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. "
7.	Factor IX (PTC)FDA LinkGeneric 01/01/1998 - "Four groups are considered: 3 cases with craniofacial dysostosis and communicating hydrocephalus (CH), 4 cases with CH alone, 3 cases with pseudotumour cerebri (PTC) and a miscellaneous group (4 cases). "
8.	ElastinIBA 09/01/2013 - "Previously operated muscles showed normal levels of collagens IV and VI (P>.27) but increased collagen I. In unoperated craniofacial dysostosis specimens, only elastin was elevated (P=.03), whereas density of collagens IV and VI was lower in previously operated vs unoperated specimens (P=.015). "
9.	CollagenIBA 09/01/2013 - "Previously operated muscles showed normal levels of collagens IV and VI (P>.27) but increased collagen I. In unoperated craniofacial dysostosis specimens, only elastin was elevated (P=.03), whereas density of collagens IV and VI was lower in previously operated vs unoperated specimens (P=.015). "
10.	Vein of Galen aneurysmIBA 02/01/1982 - "The authors report a case of thrombosed vein of Galen aneurysm in a 4.5-year-old girl with craniofacial dysostosis (Crouzon's disease). "

Therapies and Procedures

1.	Osteotomy 05/01/2006 - "The LeFort III osteotomy is the surgical treatment performed in patients with mid-facial retrusions in craniofacial dysostoses such as Crouzon, Apert, Pfeiffer syndromes, etc. The first authors to report the accomplishment of this osteotomy were Gillies and Harrison in 1951, this technique was then resumed and improved by Tessier in 1967, who made five different variants mainly regarding the typology of the osteotomy concerning the lateral wall of the orbit. " 11/01/2008 - "The patient was a 7-year-old girl with Crouzon disease who was treated by frontofacial monobloc/Le Fort IV minus glabellar osteotomy with quadruple internal distraction devices. " 07/01/2008 - "Midface osteotomy versus distraction: the effect on speech, nasality, and velopharyngeal function in craniofacial dysostosis." 04/01/2008 - "A retrospective study of 20 patients with craniofacial dysostosis and severe midface hypoplasia who underwent monobloc advancement osteotomies using the rigid external distractor system principally for functional reasons was undertaken. " 01/01/2008 - "A retrospective study of 21 patients with craniofacial dysostosis who underwent frontofacial advancement osteotomies using the rigid external distractor system was undertaken. "
2.	Ventriculoperitoneal Shunt 11/01/2005 - "We present a 5-year-old girl with Crouzon's disease who suffered from an acquired Chiari I malformation after insertion of a ventriculoperitoneal shunt and a coexistent ventral odontoid panus. " 05/01/1996 - "This study evaluated the presence of extradural dead space following a monobloc or facial bipartition osteotomy and examined its natural history and relationship to postoperative infection and the presence of a ventriculoperitoneal shunt at the time of osteotomy in a consecutive series of patients with craniofacial dysostosis, frontonasal dysplasia, midline cranio-orbital clefts, and orbital hypertelorism. "
3.	Sutures (Suture) 04/01/2011 - "Activation of osteoblastic bone anabolism in the calvarial sutures is considered to be the essential pathologic condition underlying mutant FGFR2-related craniofacial dysostosis. " 07/01/2010 - "Crouzon syndrome is a rare genetic disorder, which can be defined as a variation of craniofacial dysostosis caused by the premature obliteration and ossification of two or more sutures. " 03/01/1995 - "Craniofacial dysostosis (Crouzon syndrome) is a syndrome characterized by premature closing of calvarial and cranial base sutures as well as those of the orbit and maxillary complex. " 09/01/1978 - "Early skeletal release in the infant with craniofacial dysostosis: the role of the sphenozygomatic suture." 08/16/1976 - "Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. "
4.	Distraction Osteogenesis 08/01/2007 - "Midface distraction osteogenesis is propitious to teenage or severe cases of craniofacial dysostosis." 08/01/2007 - "To investigate the effect of distraction osteogenesis on correction of craniofacial dysostosis. " 08/01/2007 - "[Surgical correction of craniofacial dysostosis with midface distraction osteogenesis]." 08/01/2012 - "Distraction osteogenesis has challenged, and in many centers modified, the treatment algorithms for craniofacial dysostoses that had been based on traditional osteotomy techniques. " 01/01/2002 - "Recent applications of distraction osteogenesis to the Le Fort III osteotomy in patients with craniofacial dysostosis have proven promising (1-3). "
5.	Decompression 10/01/1976 - "Transcranial decompression of the optic nerve in the osseous canal in Crouzon's disease." 04/01/1995 - "In our series, raised ICP occurred in 6% of the children with a craniofacial dysostosis syndrome after initial suture release and decompression.(ABSTRACT TRUNCATED AT 250 WORDS)" 04/01/1995 - "The detection and management of intracranial hypertension after initial suture release and decompression for craniofacial dysostosis syndromes." 12/01/2001 - "Over a 13-month period, five children (one with Apert syndrome; four with Crouzon syndrome) with craniofacial dysostosis-associated cerebellar tonsillar herniation underwent isolated anterior cranial vault remodeling to treat observed brachycephaly (standard neurosurgical posterior decompression was not performed). "